Craniofacial syndromes

Craniofacial syndromes

Craniosynostosis can be divided into two main groups: syndromic and nonsyndromic. 

Nonsyndromic craniosynostosis is typically an isolated finding that is classified according to the suture(s) involved.

Syndromic craniosynostosis is associated with various dysmorphisms involving the face, skeleton, nervous system and is usually accompanied by developmental delay.

Craniofacial malformations can be mild or severe, and depend on what parts of the infant’s skull are affected. Certain groups of signs and symptoms are known as syndromes. 

Different specialists within the Craniofacial service of the Sydney Children’s Hospitals Network will be involved in the assessment and management plan. 

Reconstruction surgery or surgery to improve abnormalities and function may be required along with additional therapy. 

Types of Craniofacial syndromes

Treacher Collins Syndrome

Treacher Collins Syndrome is a rare genetic disorder caused by mutations in genes responsible for facial development. 

It affects roughly 1 in 50,000 newborns worldwide. 

Signs and symptoms

Children with Treacher Collins Syndrome may face challenges with feeding, breathing, speaking and hearing. 

The severity can vary from subtle facial differences to prominent features like: 

  • underdeveloped jaw (micrognathia) 
  • malformed or absent cheekbones 
  • downward slanting eyes and incomplete eyelids 
  • absent or misshapen ears 
  • hearing loss due to middle ear malformations. 

Treatment

Specialists in our service team will be involved with the assessment and management plan. 

Surgery may be required to address jaw development and for ear reconstruction. 

Hemifacial Microsomia

Hemifacial microsomia (HMF - also called “Craniofacial Microsomia”) is one of the more common conditions treated by our Craniofacial Service. 

It is a condition that affects the development of one side of the face and causes asymmetry that can range from subtle to significant. 

HFM affects approximately 1 in 3,500 to 4,000 newborns. While the cause is often unknown, it can arise from developmental disruptions during pregnancy.

Signs and symptoms

While the appearance is the most visible marker, HFM can also affect speaking and eating. 

HFM may affect the development of the jaw,  ear,  mouth, the soft tissues of the cheek and the bones around the eye. 

The severity and affected areas can vary, though the lower jaw (mandible) is typically underdeveloped, leading to: 

  • facial asymmetry, with one side appearing smaller 
  • misaligned bite and difficulty chewing 
  • speech difficulties due to jaw and muscle limitations 
  • hearing loss if middle ear structures are involved 
  • eyelid malformations or asymmetry 

Treatment

Surgical treatment for HFM will depend on what structures are affected. Ear, facial nerves or jaw reconstruction may be required.

The timing and type of surgery is determined by our team who will work with you and your child on an individualised treatment plan. 

Craniofrontonasal Dysplasia

Craniofrontonasal Dysplasia (CFND) is a rare genetic condition that affects the development of the skull, face, and nose, creating  challenges that require specialised care. 

Signs and symptoms

Features include:

  • Craniosynostosis: Premature fusion of skull bones, often affecting the coronal suture (from ear to ear), can alter head shape and intracranial pressure. 
  • Midfacial hypoplasia: Underdevelopment of the middle portion of the face, including the nose, cheekbones, and forehead, can create distinct facial features. 
  • Ocular hypertelorism: Widely spaced eyes are a common characteristic of CFND, affecting facial appearance and sometimes vision. 
  • Cleft lip and/or palate: Facial clefts can occur in varying degrees, impacting feeding, speech, and facial appearance. 
  • Nasal abnormalities: A bifid nasal tip (double tip), broad nasal base, or other nasal malformations are often present. 
  • Skeletal and skin anomalies: CFND can affect fingers, toes, and nails, and sometimes cause skin changes like curly hair or grooved nails. 

Treatment

Treatment for children with CFND may involve: 

  • Cranial vault surgery: Reconstructive surgery to address craniosynostosis and intracranial pressure concerns. 
  • Midfacial advancement: Surgical procedures to improve facial symmetry and function. 
  • Speech therapy: Addressing articulation difficulties and speech development delays. 
  • Hearing aids and auditory rehabilitation: Optimising hearing if affected by middle ear malformations. 
  • Vision therapy: Addressing any visual impairments caused by craniofacial features. 
  • Psychological support: Providing guidance and counselling for families navigating the emotional aspects of living with CFND. 

Binder Syndrome

Binder Syndrome, also known as Nasomaxillary Hypoplasia, is a rare craniofacial condition that affects the development of the midface. 

This syndrome is characterised by a flat midface which can result in a distinct appearance. 

The  cause of Binder Syndrome remains unknown and it is generally considered a congenital anomaly (birth defect). 

Signs and symptoms

Other common characteristics include a short nose, a relatively small upper jaw, and a decreased nasal projection. 

These facial anomalies can cause breathing difficulties and dental issues. 

Each case varies in severity and the syndrome may be associated with other craniofacial anomalies. 

Treatment

Treatment strategies for Binder Syndrome involve craniofacial surgeons, orthodontists, and other specialists. 

Surgical intervention may be recommended to address the skeletal abnormalities and improve shape and function. 

This most commonly involves some sort of rhinoplasty to improve the nasal tip projection. Orthodontic treatment is used to align the teeth properly. 

The goal of management is to enhance facial aesthetics, correct functional issues and improve overall quality of life. 

Last updated Wednesday 8th May 2024